Yves Alembik

Strasbourg, France

Last Updated: 09/26/2026

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Found 44 publications

Co-Occurring Non-Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects.

Co-Occurring Non-Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects.

Journal: American journal of medical genetics. Part A

Published: August 19, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract.

Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract.

Journal: European journal of medical genetics

Published: July 30, 2024

Associated Anomalies in Radial Ray Deficiency.

Associated Anomalies in Radial Ray Deficiency.

Journal: American journal of medical genetics. Part A

Published: February 06, 2024

Associated anomalies in anophthalmia and microphthalmia.

Associated anomalies in anophthalmia and microphthalmia.

Journal: European journal of medical genetics

Published: August 17, 2023

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine

Published: August 03, 2023

Associated anomalies in cases with achondroplasia.

Associated anomalies in cases with achondroplasia.

Journal: European journal of medical genetics

Published: July 12, 2022

Co-occurring anomalies in congenital oral clefts.

Co-occurring anomalies in congenital oral clefts.

Journal: American journal of medical genetics. Part A

Published: August 31, 2021

Severe Phenotype in Patients with Large Deletions of NF1.

Severe Phenotype in Patients with Large Deletions of NF1.

Journal: Cancers

Published: May 21, 2021

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 02, 2021

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

Journal: Journal of medical genetics

Published: January 28, 2021

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Journal: American journal of human genetics

Published: January 24, 2021

Showing 1-12 of 44

Last Updated: 09/26/2026